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Veronika Barešová Selected Research

cysteine string protein

1/2020Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
8/2011Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

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Veronika Barešová Research Topics

Disease

3Kidney Diseases (Kidney Disease)
01/2021 - 07/2016
2Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
01/2020 - 08/2011
1Chronic Kidney Failure (Chronic Renal Failure)
12/2020
1Gout
01/2018
1Renal Insufficiency (Renal Failure)
01/2018
1Acute Kidney Injury (Acute Renal Failure)
01/2018
1Nephrolithiasis
01/2018
1Neoplasms (Cancer)
01/2018
1Mitochondrial Diseases (Mitochondrial Disease)
01/2016
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
09/2014
1Cystic Kidney Diseases (Cystic Kidney Disease)
03/2013
1Neurodegenerative Diseases (Neurodegenerative Disease)
08/2011

Drug/Important Bio-Agent (IBA)

3Mucin-1 (CA 15-3 Antigen)IBA
01/2021 - 03/2013
2cysteine string proteinIBA
01/2020 - 08/2011
1ReninIBA
12/2020
1CeroidIBA
01/2020
1Uric Acid (Urate)IBA
01/2018
1EnzymesIBA
01/2018
1Protein Isoforms (Isoforms)IBA
01/2016
1CholesterolIBA
09/2014
1DolicholsIBA
09/2014
1cis-prenyl transferaseIBA
09/2014
1CytosineIBA
03/2013
1Proteins (Proteins, Gene)FDA Link
08/2011

Therapy/Procedure

1Kidney Transplantation
07/2016